S20Y (p.Ser20Tyr) variant of ERBB3 (P21860)
S20Y (p.Ser20Tyr) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- rs34379766
- UniProt VAR 042101
- ExAC rs34379766
- TOPMed rs34379766
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- MetaLR 0.36
- MetaSVM -0.23
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)